RUNX2, RUNX family transcription factor 2, 860

N. diseases: 405; N. variants: 37
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae 		disease Disease or Syndrome 15 0.100 None 0
CUI: C0232513
Disease: Premature tooth loss
Premature tooth loss 		phenotype Stomatognathic Diseases Finding 25 0.100 None 0
CUI: C4023457
Disease: Short face
Short face 		phenotype Anatomical Abnormality 6 0.100 None 0
CUI: C1838416
Disease: CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1837078
Disease: Hypoplastic inferior ilia
Hypoplastic inferior ilia 		phenotype Finding 3 0.100 None 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease Musculoskeletal Diseases Anatomical Abnormality 40 3 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		phenotype Finding 18 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum 		phenotype Finding 6 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 0
CUI: C0158779
Disease: Cervical rib
Cervical rib 		disease Congenital Abnormality 11 0.100 None 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C4317152
Disease: Dimple chin
Dimple chin 		phenotype Anatomical Abnormality 16 2 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype Respiratory Tract Diseases Finding 64 34 0.100 None 0
CUI: C4021435
Disease: Short middle phalanx of the 2nd finger
Short middle phalanx of the 2nd finger 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 76 6 0.100 None 0
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		disease Nervous System Diseases Disease or Syndrome 35 4 0.100 None 0
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype Finding 42 5 0.100 None 0